A Novel Frameshift Mutation in SLC20A2 in a Korean Patient with Primary Brain Calcification, Parkinsonism and Memory Impairment

A novel frameshift mutation, Asn384Lysfs*30, in the <i>SLC20A2</i> gene was identified in a patient with Primary Brain Calcification (PBC). This mutation was located in a critical large loop region of the protein, where other similar mutations (e.g., Gly366fs89, Ser385Ilefs*70) were previously reported. These findings indicated that mutations in <i>SLC20A2</i> caused the reduced protein expressions, potentially resulting PBC through haploinsufficiency.